Results 131 to 140 of about 10,435,022 (365)

Glycerol-3-phosphate biosynthesis regenerates cytosolic NAD+ to alleviate mitochondrial disease [PDF]

, 2021
Shanshan Liu, Song Fu, Guodong Wang, Yu Cao, Lanlan Li, Xuemei Li, Jun Yang, Ning Li, Yabing Shan, Yang Cao, Yan Ma, Meng‐Qiu Dong, Qinghua Liu, Hui Jiang   +13 more
openalex   +1 more source

Strength through diversity: how cancers thrive when clones cooperate

Molecular Oncology, EarlyView.
Intratumor heterogeneity can offer direct benefits to the tumor through cooperation between different clones. In this review, Kuiken et al. discuss existing evidence for clonal cooperativity to identify overarching principles, and highlight how novel technological developments could address remaining open questions.
Marije C. Kuiken, Maartje Witsen, Emile E. Voest, Krijn K. Dijkstra   +3 more
wiley   +1 more source

Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1

Orphanet Journal of Rare Diseases
Background Glutaric Aciduria Type 1 (GA-1) is a rare metabolic disorder characterized by a deficiency in glutaryl-coenzyme A dehydrogenase (GDH), leading to the accumulation of neurotoxic compounds that affect neurodevelopment.
Zamora-Crespo Berta, Moreno-Ramos Zaida, Martínez de Aragón Ana, Núñez-Enamorado Noemí, Martin-Bejarano Manuela, Villaluenga Raquel, Barrio Delia, Bellusci Marcello, Martín-Hernández Elena, Quijada-Fraile Pilar   +9 more
doaj   +1 more source

Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi011-A) from a patient with autosomal dominant spastic paraplegia 9A due to ALDH18A1 mutation

Stem Cell Research
We used a non-integrated reprogramming approach to establish a human induced pluripotent stem cell (hiPSC) line (INNDSUi011-A) from the skin fibroblasts of a 38-year-old female individual with autosomal dominant spastic paraplegia 9A due to ALDH18A1 ...
Didi Shan, Hongxu Wang, Jianing Li, Yu Wang, Fuchen Liu   +4 more
doaj   +1 more source

Dissecting the Crosstalk between Endothelial Mitochondrial Damage, Vascular Inflammation, and Neurodegeneration in Cerebral Amyloid Angiopathy and Alzheimer’s Disease [PDF]

, 2021
Rebecca Parodi‐Rullán, Sabzali Javadov, Silvia Fossati   +2 more
openalex   +1 more source

Uncoupling protein 2: a key player and a potential therapeutic target in vascular diseases [PDF]

, 2017
Uncoupling protein 2 (UCP2) is an inner mitochondrial membrane protein that belongs to the uncoupling protein family and plays an important role in lowering mitochondrial membrane potential and dissipating metabolic energy with prevention of oxidative ...
Forte, Maurizio, Migliarino, Serena, Perelli, Marika, Pierelli, Giorgia, Rubattu, Speranza, Stanzione, Rosita, Volpe, Massimo   +6 more
core   +2 more sources

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

Proximity extension assay reveals serum inflammatory biomarkers in two amyotrophic lateral sclerosis cohorts

Neurobiology of Disease
Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease with both clinical and hereditary heterogeneity. Inflammation has been suggested to play an important role in ALS pathophysiology.
Yujing Chen, Sujuan Sun, Ninglu Gao, Zetai Bai, Wenfei Yu, Bing Zhao, Yan Yun, Xiaohan Sun, Pengfei Lin, Wei Li, Yuying Zhao, Chuanzhu Yan, Shuangwu Liu   +12 more
doaj   +1 more source

Role of Impaired Mitochondrial Dynamics Processes in the Pathogenesis of Alzheimer’s Disease [PDF]

, 2022
Alexander V. Blagov, Andrey V. Grechko, Nikita G. Nikiforov, Evgeny E. Borisov, Nikolay K. Sadykhov, Alexander N. Orekhov   +5 more
openalex   +1 more source

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

BMC Medical Genetics, 2018
BackgroundSince the advent of next generation sequencing (NGS), several studies have tried to evaluate the relevance of targeted gene panel sequencing and whole exome sequencing for molecular diagnosis of mitochondrial diseases.
M. Plutino, A. Chaussenot, C. Rouzier, S. Ait-El-Mkadem, K. Fragaki, V. Paquis-Flucklinger, S. Bannwarth   +6 more
semanticscholar   +1 more source